Variant report

Variant	rs35054229
Chromosome Location	chr14:71785202-71785203
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:71784515-71785319	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:71784673-71785229	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71780085..71783168-chr14:71784973..71787067,3	K562	blood:
2	chr14:71776798..71778756-chr14:71785140..71789113,3	MCF-7	breast:

Variant related genes	Relation type
SIPA1L1	TF binding region
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10483836	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11626886	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12433040	0.81[EUR][1000 genomes]
rs12878989	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12879243	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12880188	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12880291	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12880611	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12881643	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12881957	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12884929	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12885344	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12887261	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12889866	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12891975	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12892512	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12894016	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12894478	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896900	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12896986	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs14030	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17178045	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17178206	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17178234	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767362	0.81[EUR][1000 genomes]
rs17767380	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17767386	0.82[EUR][1000 genomes]
rs17767392	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767398	0.91[EUR][1000 genomes]
rs17767410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767446	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767499	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767523	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767553	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17767680	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17767686	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1990241	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2108049	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2108707	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108708	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2109276	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2190240	0.81[EUR][1000 genomes]
rs2214836	0.81[EUR][1000 genomes]
rs2332638	0.81[EUR][1000 genomes]
rs2877729	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33994051	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34011442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057981	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34061264	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34169215	0.84[EUR][1000 genomes]
rs34176710	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34281405	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34281934	0.81[EUR][1000 genomes]
rs34320622	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34347034	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34388001	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34454371	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34469007	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34480562	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34524083	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34528013	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34528131	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34533948	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34649709	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34674149	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34725136	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34746156	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34748537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34767050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34873919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911660	0.88[EUR][1000 genomes]
rs34957192	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34991781	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34993988	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35051046	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35094946	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35122644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35151594	0.89[EUR][1000 genomes]
rs35231795	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35260692	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35415083	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35468256	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35609708	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35613269	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35620527	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35621718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35625243	0.86[EUR][1000 genomes]
rs35680546	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35692397	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35760654	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35796129	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35822724	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35831373	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35854505	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35866366	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35971049	0.84[EUR][1000 genomes]
rs36057816	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36072220	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36093218	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784066	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4453405	0.90[EUR][1000 genomes]
rs4899394	0.91[EUR][1000 genomes]
rs4902938	0.84[EUR][1000 genomes]
rs55863348	0.80[EUR][1000 genomes]
rs55883127	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56363446	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56407721	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989252	0.81[EUR][1000 genomes]
rs61989255	0.81[EUR][1000 genomes]
rs61989256	0.81[EUR][1000 genomes]
rs61989259	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61989367	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989373	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989374	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989377	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61989379	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989383	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61991193	0.83[AMR][1000 genomes]
rs61991195	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61991199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991200	0.90[EUR][1000 genomes]
rs61991201	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991202	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991203	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991204	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991205	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991213	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61991243	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991246	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991247	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991248	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991249	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61991250	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61991254	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991255	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67489015	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68073803	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140354	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7140501	0.81[EUR][1000 genomes]
rs7142180	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142214	0.90[EUR][1000 genomes]
rs7142343	0.81[EUR][1000 genomes]
rs7145755	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7147434	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147668	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7152674	0.84[EUR][1000 genomes]
rs7152842	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7156460	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7157241	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs722633	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723966	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs725673	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72728406	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72728427	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757850	0.84[EUR][1000 genomes]
rs8007068	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015644	0.89[EUR][1000 genomes]
rs8017775	0.81[EUR][1000 genomes]
rs8019721	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9323561	0.81[EUR][1000 genomes]
rs9672060	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71771800-71786400	Weak transcription	Pancreas	Pancrea
2	chr14:71772800-71786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:71779800-71786400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:71781800-71786400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:71781800-71786400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:71782000-71786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:71782200-71786200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:71784400-71786200	Weak transcription	NHDF-Ad	bronchial
9	chr14:71784400-71786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:71784400-71786400	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:71784600-71786400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:71784600-71786400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:71784600-71786400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:71784600-71786400	Weak transcription	Left Ventricle	heart
15	chr14:71784600-71786400	Weak transcription	Spleen	Spleen
16	chr14:71784800-71786200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:71785000-71785800	Weak transcription	Fetal Heart	heart
18	chr14:71785000-71786200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:71785000-71786200	Weak transcription	Liver	Liver
20	chr14:71785000-71786400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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